Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency Through the Eyes of Patients and Parents; Burden of Illness Perspectives From Patients and Parents Who Speak English, French or German

To date, the investigators lack characterization of, the burden of, and the systemic progression of disease in ENPP1 deficiency and ABCC6 deficiency from a patient and/or parent perspective. This study aims to document this characterization, progression as well as the burden of disease. Link to the study registration-

https://www.engagehealth.com/survey/TakeSurvey.aspx?SurveyID=8252n62

Study Overview

• Status: Completed
• Conditions: Generalized Arterial Calcification in Infancy; Autosomal Recessive Hypophosphatemic Rickets Type 2

Detailed Description

This will be a comprehensive, cross-sectional study conducted in approximately 60 individuals (or representative parents of patients) affected by ENPP1 deficiency and the acute form of ABCC6 deficiency. All study participants will complete the RSVP, PRO tools and upload a proof of disease form, followed by an interview conducted by a trained interviewer. It is estimated that each respondent will need up to 60 minutes for the entire process; 20 minutes to complete the RSVP, PRO tools and to upload proof of diagnosis of ENPP1 deficiency or the acute form of ABBC6 deficiency, and approximately 40 minutes to complete the interview and address any follow-up questions if needed.

• Study Type: Observational
• Enrollment (Actual): 38

Contacts and Locations

Study Locations

• United States
  • Minnesota
    • Eagan, Minnesota, United States, 55121
      • Engage Health

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

60 participants across four groups; person or parent/legal guardian affected by ENPP1 (GACI or ARHR2) or the acute form of ABCC6 def. described below;

• Acute infantile ENPP1 def. (due to the high infant mortality, this group likely to include parents of affected children, both living and deceased)
• Acute infantile ABCC6 def. (due to the high infant mortality, this group likely to include parents of affected children, both living and deceased)
• Progressive pediatric ENPP1 def. who are still growing (note; due to the age of those who are still growing, this group is likely to include parents of affected children)
• Adult ENPP1 def. who are no longer growing (note: due to the age of those who are no longer growing, this group is likely to include both patients > age 18 years and parents of affected children who are < age 18 years or who are unable to answer for themselves)

Description

Inclusion Criteria:

1. Participant must be a person with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency who is 18 years or older
2. The parent/caregiver of a patient who has been diagnosed with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency. Please note, parents/caregivers of patients with ENPP1 deficiency who have passed away may participate
3. Confirmed diagnosis of ENPP1 deficiency or ABCC6 deficiency with written proof of disease provided
4. Ability to participate in the RSVP and interview in German, French or English, irrespective of country of residence.
5. Able to grant informed consent
6. Willing to participate in a 40-to-60-minute telephone interview, including follow up questions (if necessary)

Exclusion Criteria:

• Inability to meet any of the inclusion criteria

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To improve the understanding of the characterization and burden of disease in ENPP1 deficient, and acute ABCC6 deficient, patients who are still growing and those who are done growing	The burden of disease through the eyes/voice of the patient and or caregiver will be collected and analyze for improved understanding	Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.
To collect information regarding disease burden, in the patient's / families own terms	Data will be collected in terms used by the patient and or caregiver	Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.
To build a foundation of evidence to contribute to the dossier, used for many purposes, including reimbursement and regulatory bodies.	Data will be collected and analyzed to be able to draw meaningful conclusions regarding burden of disease in the voice of patients and caregivers	Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.

Collaborators and Investigators

• Sponsor: Inozyme Pharma
• Collaborators: Engage Health Inc.; GACI Global
• Investigators: Principal Investigator: Pedro Huertas, MD, Inozyme Pharma

Publications and helpful links

Helpful Links

• Registration link to participate in the survey

Study record dates

Study Major Dates

• Study Start (Actual): May 6, 2020
• Primary Completion (Actual): September 30, 2020
• Study Completion (Actual): September 30, 2020

Study Registration Dates

• First Submitted: April 13, 2020
• First Submitted That Met QC Criteria: May 1, 2020
• First Posted (Actual): May 4, 2020

Study Record Updates

• Last Update Posted (Actual): April 1, 2021
• Last Update Submitted That Met QC Criteria: March 30, 2021
• Last Verified: March 1, 2021

More Information

Terms related to this study

• Keywords: ENPP1 deficiency and ABCC6 deficiency
• Additional Relevant MeSH Terms: Metabolic Diseases; Kidney Diseases; Urologic Diseases; Nutrition Disorders; Genetic Diseases, Inborn; Musculoskeletal Diseases; Avitaminosis; Deficiency Diseases; Malnutrition; Bone Diseases; Metabolism, Inborn Errors; Bone Diseases, Metabolic; Renal Tubular Transport, Inborn Errors; Calcium Metabolism Disorders; Metal Metabolism, Inborn Errors; Phosphorus Metabolism Disorders; Vitamin D Deficiency; Hypophosphatemia, Familial; Hypophosphatemia; Rickets; Familial Hypophosphatemic Rickets; Rickets, Hypophosphatemic
• Other Study ID Numbers: INZ701-004

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No